Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Marco Savarese; Johanna Palmio; Juan Jose Poza; Jan Weinberg; Montse Olive; Ana Maria Cobo; Anna Vihola; Per Harald Jonson; Jaakko Sarparanta; Federico Garcia-Bragado; Jon Andoni Urtizberea; Peter Hackman; Bjarne Udd

doi:10.1002/ana.25470

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Marco Savarese, Johanna Palmio, Juan Jose Poza, Jan Weinberg, Montse Olive, Ana Maria Cobo, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Federico Garcia-Bragado, Jon Andoni Urtizberea, Peter Hackman, Bjarne Udd

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Annals of Neurology
Volym	85
Nummer	6
Sidor (från-till)	899-906
Antal sidor	8
ISSN	0364-5134
DOI	https://doi.org/10.1002/ana.25470
Status	Publicerad - juni 2019
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3111 Biomedicinska vetenskaper
3112 Neurovetenskaper
3124 Neurologi och psykiatri

Åtkomst av dokument

10.1002/ana.25470

Savarese_et_al_2019_Annals_of_NeurologyAccepterat manuskript från författare, 1,57 MB
Savarese_et_al-2019-Annals_of_NeurologySlutlig publicerad version, 4,94 MB

Citera det här

@article{85c801e2c0c94016a29067d2abd0911e,

title = "Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations",

keywords = "ALPHA-ACTININ, PROTEIN, ALPHA-ACTININ-2, CARDIOMYOPATHY, DOMAIN, GENES, 3111 Biomedicine, 3112 Neurosciences, 3124 Neurology and psychiatry",

author = "Marco Savarese and Johanna Palmio and Poza, {Juan Jose} and Jan Weinberg and Montse Olive and Cobo, {Ana Maria} and Anna Vihola and Jonson, {Per Harald} and Jaakko Sarparanta and Federico Garcia-Bragado and Urtizberea, {Jon Andoni} and Peter Hackman and Bjarne Udd",

year = "2019",

month = jun,

doi = "10.1002/ana.25470",

language = "English",

volume = "85",

pages = "899--906",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "Wiley",

number = "6",

}

TY - JOUR

T1 - Actininopathy

T2 - A new muscular dystrophy caused by ACTN2 dominant mutations

AU - Savarese, Marco

AU - Palmio, Johanna

AU - Poza, Juan Jose

AU - Weinberg, Jan

AU - Olive, Montse

AU - Cobo, Ana Maria

AU - Vihola, Anna

AU - Jonson, Per Harald

AU - Sarparanta, Jaakko

AU - Garcia-Bragado, Federico

AU - Urtizberea, Jon Andoni

AU - Hackman, Peter

AU - Udd, Bjarne

PY - 2019/6

Y1 - 2019/6

KW - ALPHA-ACTININ

KW - PROTEIN

KW - ALPHA-ACTININ-2

KW - CARDIOMYOPATHY

KW - DOMAIN

KW - GENES

KW - 3111 Biomedicine

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1002/ana.25470

DO - 10.1002/ana.25470

M3 - Article

VL - 85

SP - 899

EP - 906

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 6

ER -